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Article
Open AccessPrecocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
Here, we report a Japanese patient with Simpson–Golabi–Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, m...
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Article
Open AccessDiagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
Pontocerebellar hypoplasia (PCH) is increasingly known as a degenerative disease rather than simple “hypoplasia”. At least 21 disease-causing genes have been identified for PCH so far. Because PCH is very hete...
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Article
Open AccessPhenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because o...
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Article
Open AccessA novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hyp...
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Article
Open AccessEffectiveness of rotavirus vaccines against hospitalisations in Japan
In Japan, rotavirus hospitalisation occurs at a rate from 2.8 to 13.7 per 1000 child-years among children age less than 5 years, and it imposes a substantial burden to the healthcare system in the country. Whi...
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Article
Open AccessPathological fracture of the femur in Alagille syndrome that was treated with low-intensity pulsed ultrasound stimulation and an Ilizarov ring fixator: a case report
Alagille syndrome is a multisystem disorder, which is characterized by hypoplasia of the intrahepatic bile ducts, malformations of the cardiovascular system, eyes, and vertebral column, and abnormal facies. Se...
